Variant report

Variant	rs17767386
Chromosome Location	chr14:71748353-71748354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11620632	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11626886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11626990	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11845249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11849508	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127	0.82[EUR][1000 genomes]
rs12878989	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12880291	0.82[EUR][1000 genomes]
rs12884929	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12887261	0.82[EUR][1000 genomes]
rs12891975	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs14030	0.82[EUR][1000 genomes]
rs17178045	0.82[EUR][1000 genomes]
rs17767362	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17767380	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767392	0.81[EUR][1000 genomes]
rs17767398	0.85[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17767410	0.81[EUR][1000 genomes]
rs17767553	0.94[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs1990241	0.81[EUR][1000 genomes]
rs2108706	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2108708	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2159145	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286409	0.93[YRI][hapmap]
rs34011442	0.81[EUR][1000 genomes]
rs34061264	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34281405	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34388001	0.82[EUR][1000 genomes]
rs34528013	0.81[EUR][1000 genomes]
rs34533948	0.83[EUR][1000 genomes]
rs34649709	0.85[EUR][1000 genomes]
rs34674149	0.94[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs34725136	0.84[EUR][1000 genomes]
rs34746156	0.85[EUR][1000 genomes]
rs34767050	0.83[EUR][1000 genomes]
rs34911660	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34957192	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34991781	0.82[EUR][1000 genomes]
rs35054229	0.82[EUR][1000 genomes]
rs35094946	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35122644	0.81[EUR][1000 genomes]
rs35151594	0.83[EUR][1000 genomes]
rs35620527	0.82[EUR][1000 genomes]
rs35621718	0.81[EUR][1000 genomes]
rs35625243	0.81[EUR][1000 genomes]
rs35692397	0.82[EUR][1000 genomes]
rs35796129	0.84[EUR][1000 genomes]
rs35822724	0.84[EUR][1000 genomes]
rs35831373	0.82[EUR][1000 genomes]
rs35866366	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36057816	0.81[EUR][1000 genomes]
rs4453405	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899394	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902928	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55863348	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56201715	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56363446	0.81[EUR][1000 genomes]
rs59697713	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989244	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989245	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989246	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989247	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989250	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989252	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989255	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989256	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989257	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989259	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989379	0.82[EUR][1000 genomes]
rs61991192	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61991193	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61991195	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991199	0.85[EUR][1000 genomes]
rs61991200	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61991201	0.85[EUR][1000 genomes]
rs61991202	0.84[EUR][1000 genomes]
rs61991203	0.81[EUR][1000 genomes]
rs61991204	0.81[EUR][1000 genomes]
rs61991205	0.81[EUR][1000 genomes]
rs61991213	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61991243	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61991246	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61991249	0.85[EUR][1000 genomes]
rs68073803	0.84[EUR][1000 genomes]
rs7140354	0.81[EUR][1000 genomes]
rs7142180	0.81[EUR][1000 genomes]
rs7142214	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152842	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7155259	0.83[CEU][hapmap]
rs7156194	0.86[CEU][hapmap]
rs7160460	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs723966	0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs72726701	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72726702	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728403	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728406	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72728427	0.84[EUR][1000 genomes]
rs8007068	0.84[EUR][1000 genomes]
rs8015644	0.84[EUR][1000 genomes]
rs8019721	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17767386	SIPA1L1	cis	cerebellum	SCAN
rs17767386	PCNX	cis	cerebellum	SCAN
rs17767386	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71743800-71750200	Weak transcription	Thymus	Thymus

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